Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion> ?p ?o ?g. }
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- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion type Assertion NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_head.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion description "[We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N314D and R333W mutations, previously found in Caucasians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion evidence source_evidence_curated NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion SIO_000772 7550229 NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion wasDerivedFrom uniprot-20130724 NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.
- NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_assertion wasGeneratedBy ECO_0000218 NP2516.RAovj-F7k95hDq5eV1PJGjMFgrLPL2u7R5SmqUUL5t5Pk130_provenance.